A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda


Yerebakan O., Hu G., Yılmaz E., Çelebi J. T.

CLINICAL AND EXPERIMENTAL DERMATOLOGY, vol.28, no.5, pp.542-544, 2003 (SCI-Expanded) identifier identifier identifier

Abstract

Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and recently mutations in the ARS ( component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS ( component B). These findings extend the body of evidence implicating mutations in the ARS ( component B) gene in Mal de Meleda.